Al Kaissi Ali, Ben Chehida Farid, Gharbi Hassan, Jinziri Mourad, Safi Hatem, Ben Ghachem Maher, Grill Franz, Varga Franz, Klaushofer Klaus
Ludwig-Boltzmann Institute of Osteology, Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling, 4th Medical Department, Vienna, Austria.
J Pediatr (Rio J). 2006 May-Jun;82(3):236-9. doi: 10.2223/JPED.1489.
Bowing of the legs is usually thrown into the basket of vitamin D deficiency rickets; therefore, a significant number of affected children can be misdiagnosed and improperly managed. This case illustrates how the careful clinical and radiological assessment of such a case can lead to the adequate understanding of its etiology.
We report a sporadic case of a 2-year-old male child who presented with radiological features that were compatible with Weismann-Netter-Stuhl syndrome. In addition, we observed craniovertebral malformation complex. He was of normal intelligence. To our knowledge, the combination of Weismann-Netter-Stuhl syndrome and presence of a hypoplastic occipitalized atlas and further C2-C3 fusion has not been reported before. The diagnosis of Weismann-Netter-Stuhl is discussed. Classically, Weismann-Netter-Stuhl syndrome is characterized by short stature, mental retardation (in some individuals), dural calcification, and anterior bowing of the tibiae. However, we believe that careful clinical and radiological examinations can reveal more striking data which might positively reflect on the whole process of management.
We postulate that the congenital limitations in neck movements in our patient developed because of the marked fusion of the hypoplastic and occipitalized atlas and simultaneous C2-C3 fusion. Therefore, if this form of malformation is disregarded, there may be involvement of the atlantoaxial structure, and this can possibly lead to serious neurological and even life-threatening complications. The use of CT scanning for the detection of such abnormalities can be remarkably important.
腿部弯曲通常被归类为维生素D缺乏性佝偻病；因此，大量受影响的儿童可能会被误诊和不当治疗。本病例说明了对这样一个病例进行仔细的临床和放射学评估如何能够充分理解其病因。
我们报告了一例散发的2岁男童病例，其放射学特征与魏斯曼 - 内特尔 - 施图尔综合征相符。此外，我们还观察到颅颈畸形复合体。他智力正常。据我们所知，魏斯曼 - 内特尔 - 施图尔综合征与发育不全的枕化第一颈椎以及进一步的C2 - C3融合并存的情况此前尚未有过报道。文中讨论了魏斯曼 - 内特尔 - 施图尔综合征的诊断。经典的魏斯曼 - 内特尔 - 施图尔综合征的特征为身材矮小、智力发育迟缓（部分个体）、硬脑膜钙化以及胫骨前弓。然而，我们认为仔细的临床和放射学检查能够揭示更多显著的数据，这可能对整个治疗过程产生积极影响。
我们推测，我们患者颈部运动的先天性受限是由于发育不全的枕化第一颈椎与C2 - C3同时显著融合所致。因此，如果忽视这种畸形形式，可能会累及寰枢椎结构，进而可能导致严重的神经并发症甚至危及生命。使用CT扫描来检测此类异常可能非常重要。
